All individuals with variants in gene CDKL5

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

684 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000102	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	-	-	3	1	Global Variome, with Curator vacancy
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00035146	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035147	-	-	-	-	-	Germany	-	-	-	-	-	?	developmental delay, epilepsy	1	1	Andreas Laner
00035148	-	-	-	-	-	Germany	-	-	-	-	-	?	severe mental handicap, epilepsy	1	1	Andreas Laner
00035149	-	-	-	-	-	Germany	-	-	-	-	-	?	therapy-reistent epilepsy, mental handicap	1	1	Andreas Laner
00035150	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected genetic predisposition, epilepsy at the early infancy, severe developmental delay, therapy-reistent epilepsy, Hypsarrhythmie partiell	1	1	Andreas Laner
00035151	-	-	-	-	-	Germany	-	-	-	-	-	?	early childhood epilepsies, stereotypies	1	1	Andreas Laner
00035152	-	-	-	-	-	Germany	-	-	-	-	-	?	epileptic encephalopathy since the first year of life	1	1	Andreas Laner
00035153	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035154	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035155	-	-	-	-	-	Germany	-	-	-	-	-	?	severe early childhood epilepsy with fits	1	1	Andreas Laner
00035156	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035157	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035158	-	-	-	-	-	Germany	-	-	-	-	-	?	epileptic encepahlopathy, developmental delay	1	1	Andreas Laner
00035159	-	-	-	-	-	Germany	-	-	-	-	-	?	severe early childhood epilepsy with fits	1	1	Andreas Laner
00035160	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035161	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035162	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00050639	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	abnormality of prenatal development or birth, oral cleft, seizures, congenital visual impairment, global developmental delay, wide nasal bridge, bilateral microphthalmos, upslanted palpebral fissure	1	1	Johan den Dunnen
00081063	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	EIEE2	Epileptic encephalopathy, early infantile, 2 (OMIM:300672)	1	1	Daniel Trujillano
00081085	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	EIEE2	Epileptic encephalopathy, early infantile, 2 (OMIM:300672)	1	1	Daniel Trujillano
00087273	FamRS315	PubMed: Huopaniemi 2000	family, 2 affected sibs	M	no	Denmark	-	-	-	-	-	RS1	typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres	1	2	Johan den Dunnen
00114879	19377263-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114880	19377264-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114881	19377265-Pat?	PubMed: Tarpey 2009	-	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	16	Lucy Raymond
00114882	19377266-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	1	11	Lucy Raymond
00114883	-	-	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00114884	19377267-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	1	8	Lucy Raymond
00114885	19377268-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114886	19377269-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114887	-	-	-	F	-	Greece	-	-	-	-	-	Rett syndrome	Rett syndrome	1	1	Marianna Kouskou
00114888	19377270-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114889	-	-	-	-	-	Germany	-	-	-	-	-	?	severe infantile epilepsy; ?	1	1	Birgit Neitzel
00114890	19377271-Pat?	PubMed: Tarpey 2009	-	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00114891	19377272-Pat?	PubMed: Tarpey 2009	-	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00114892	-	-	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00114893	19377273-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	2	1	Lucy Raymond
00114894	19377274-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	1	1	Lucy Raymond
00114895	19377275-Pat?	PubMed: Tarpey 2009	-	?	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00114896	-	-	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00114897	19377276-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114898	-	-	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00114899	-	-	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00114900	19377277-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114901	19377278-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114902	19377279-Pat?	PubMed: Tarpey 2009	unrelated girls	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	1	1	Lucy Raymond
00114903	19377280-Pat?	PubMed: Tarpey 2009	unrelated girls	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	1	1	Lucy Raymond
00114904	19377281-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	severe mental retardation, microcephaly, diffuse hypotonia, hyperreflexia, no language, numerous refractory seizures, stereotypical movement hands; 5y-precocious puberty; EIEE2	1	1	Lucy Raymond
00114905	19377282-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	AS	absence of speech, severe developmental delay, ataxic gait, hypermotoric behavior, easily excitable personality (uplifted hand-flapping), microcephaly, intractable seizures, brachycephaly, wide mouth, widely dispersed teeth, progressive prognathism; Angelman syndrome	1	1	Lucy Raymond
00114906	19377283-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114907	19377284-Pat?	PubMed: Tarpey 2009	family, affected twin girls and an affected brother	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114908	19377285-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114909	19377286-Pat?	PubMed: Tarpey 2009	monozygotic twins	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2	1	1	Lucy Raymond
00114910	19377287-Pat?	PubMed: Tarpey 2009	monozygotic twins	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2	1	1	Lucy Raymond
00114911	19377288-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	Rett syndrome (variant), infantile seizures, acquired microcephaly, hand apraxia, generalized hypotonia, stereotypic hand motions; EIEE2	1	1	Lucy Raymond
00114912	19377289-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	Rett syndrome, variant, infantile spasms; EIEE2	1	1	Lucy Raymond
00114913	19377290-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	1	1	Lucy Raymond
00114914	19377291-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	1	1	Lucy Raymond
00114915	19377292-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	in vitro	1	1	Lucy Raymond
00114916	19377293-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	8m-psychomotor regression, coincided with onset seizures; loss of speech, ataxia, progression of refractory seizures; EIEE2	1	1	Lucy Raymond
00114917	19377294-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114918	19377295-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	3	3	Lucy Raymond
00114919	-	-	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00114920	-	-	-	-	-	Germany	-	-	-	-	-	MRX;IDX	most severe retardation, hypotonia, epiliptic and non-epiliptic myoclonia, as well as other seizures; MRX	1	1	Birgit Neitzel
00114921	-	-	-	-	-	Germany	-	-	-	-	-	?	no clinic; ?	1	1	Birgit Neitzel
00114922	-	-	-	-	-	Germany	-	-	-	-	-	MRX;IDX	epilepsy, hepatomegalie, developmental retardation; MRX	1	1	Birgit Neitzel
00114923	-	-	-	-	-	Germany	-	-	-	-	-	?	no clinic; ?	1	1	Birgit Neitzel
00114924	19377296-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	1	5	Lucy Raymond
00114925	19377297-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	2m-onset seizures; mild dysmorphic features incl. high sloping forehead, hypotelorism, epicanthus, broad nasal bridge, high palate, large anteverted ears; profound mental retardation, refractory epilepsy; EIEE2	1	1	Lucy Raymond
00114926	19377298-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	encephalopathy	1	1	Lucy Raymond
00114927	19377299-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome, variant, infantile spasms; Rett syndrome?	1	1	Lucy Raymond
00114928	19377300-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114929	19377301-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114930	19377302-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	1	1	Lucy Raymond
00114931	19377303-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	1	1	Lucy Raymond
00114932	19377304-Pat?	PubMed: Tarpey 2009	family, affected twin girls and an affected brother	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114933	19377305-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114934	19377306-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	1	1	Lucy Raymond
00114935	19377307-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	1	1	Lucy Raymond
00114936	19377308-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	2	1	Lucy Raymond
00114937	19377309-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	1	1	Lucy Raymond
00114938	19377310-Pat?	PubMed: Tarpey 2009	family, affected twin girls and an affected brother	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114939	19377311-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; EIEE2	1	1	Lucy Raymond
00114940	-	-	hypotonia, development delay	F	-	Brazil	-	-	-	-	-	EIEE2	Epiletic encephalopathy, Infantile Spasms; CDKL5 related encephalopathy	1	1	Erica Ermel
00114941	19377312-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114942	19377313-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114943	19377314-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	?	-	1	2	Lucy Raymond
00114944	19377315-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	encephalopathy	1	1	Lucy Raymond
00114945	19377316-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	1	1	Lucy Raymond
00114947	19377318-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	Rett syndrome, atypical; EIEE2	1	1	Lucy Raymond
00114955	19377326-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	1	1	Lucy Raymond
00114956	19377327-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome, variant, infantile spasms; Rett syndrome?	1	1	Lucy Raymond
00114957	19377328-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114958	19377329-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	1	1	Lucy Raymond
00114959	19377330-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	1	1	Lucy Raymond
00114960	19377331-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome, variant, infantile spasms; Rett syndrome?	1	1	Lucy Raymond
00114961	19377332-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome, atypical; Rett syndrome?	1	1	Lucy Raymond
00114962	19377333-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome	Rett syndrome?	1	1	Lucy Raymond
00114963	19377334-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	1	1	Lucy Raymond

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Global Variome shared LOVD

CDKL5 (cyclin-dependent kinase-like 5)