All individuals with variants in gene SCN1A

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.

329 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00016320	-	-	-	M	no	Italy	-	-	-	-	-	DRVT	-	1	1	Lab Zuffardi
00016323	-	-	-	F	?	Italy	-	-	-	-	-	GEFSP1	-	1	1	Lab Zuffardi
00036783	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036784	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036785	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036786	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mother healthy, result of daughter: suspected Dravet syndrome	1	1	Andreas Laner
00036787	-	-	-	-	-	Germany	-	-	-	-	-	?	child of index: epilepsy, brother, father and grand-father: epilepsy	1	1	Andreas Laner
00036788	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036789	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome	1	1	Andreas Laner
00036790	-	-	-	-	-	Germany	-	-	-	-	-	?	febrile convulsion and focal seizures	1	1	Andreas Laner
00036791	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036792	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036793	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036794	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome	1	1	Andreas Laner
00036795	-	-	-	-	-	Germany	-	-	-	-	-	?	parents: segregation analysis;child: Dravet syndrome	1	1	Andreas Laner
00036796	-	-	-	-	-	Germany	-	-	-	-	-	?	therapy-refractory epilepsy since the sixth month of life,severe mental retardation, spastistic-ataxic gait disorder, scoliosis	1	1	Andreas Laner
00036797	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036798	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036799	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036800	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036801	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036802	-	-	-	-	-	Germany	-	-	-	-	-	?	therapy-refractory Myoklonusepilepsy; other patient: Dravet syndrome, GEFS+, therapie-resistent epilepsy with tonic-clonic generalized seizures, myoclonic seizures and Absencen	1	1	Andreas Laner
00036803	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome, febrile convulsions	1	1	Andreas Laner
00036804	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036805	-	-	-	-	-	Germany	-	-	-	-	-	?	therapie-resistent epilepsy with tonic-clonic generalized seizures, Absencen, mental retardation	1	1	Andreas Laner
00036806	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome (relapsing prolonged generalized seizures)	1	1	Andreas Laner
00036807	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036808	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome, epilepsy with Hemi-Grand mal and generalized seizures	1	1	Andreas Laner
00036809	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome	1	1	Andreas Laner
00036810	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036811	-	-	-	-	-	Germany	-	-	-	-	-	?	Grand-Mal-epilepsy	1	1	Andreas Laner
00036812	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome	1	1	Andreas Laner
00036813	-	-	-	-	-	Germany	-	-	-	-	-	?	Dravet syndrome, therapie-resistent epilepsy since the forth month of life, Grand-mal, infektgetriggert, Absencen, Blinzelabsencen, Hypomimie, bradykinesia, Spastic-ataxic gait, Perseverationsneigung	1	1	Andreas Laner
00036814	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036815	-	-	-	-	-	Germany	-	-	-	-	-	?	focal infantile epilepsy with relapsing Status epilepticus, adequate psychomotor development	1	1	Andreas Laner
00036816	-	-	-	-	-	Germany	-	-	-	-	-	?	GEFS+, status post multiple generalized febrile seizures	1	1	Andreas Laner
00036817	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036818	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036819	-	-	-	-	-	Germany	-	-	-	-	-	?	therapie-resistent epilepsy	1	1	Andreas Laner
00036820	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036821	-	-	-	-	-	Germany	-	-	-	-	-	?	Dravet syndrome	1	1	Andreas Laner
00036822	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected familiar hemiplegtic migraine (mother probably also affected)	1	1	Andreas Laner
00036823	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome: epilepsy with early-childhood Grand-mal and alterating hemi-Grand-mal seizures, relapsing febrile convulsions, mental retardation, severe learning disorder	1	1	Andreas Laner
00036824	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036825	-	-	-	-	-	Germany	-	-	-	-	-	?	GEFS+, febrile convulsions	1	1	Andreas Laner
00036826	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036827	-	-	-	-	-	Germany	-	-	-	-	-	?	Epileptic encephalopathy (eutrophic newborn), mother: idiopathic generalized epilepsy	1	1	Andreas Laner
00036828	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036829	-	-	-	-	-	Germany	-	-	-	-	-	?	Dravet syndrome; therapie-resistent epilepsy, grand-mal,mental retardation	1	1	Andreas Laner
00036830	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036831	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036832	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036833	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036834	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036835	-	-	-	-	-	Germany	-	-	-	-	-	?	epilepsy	1	1	Andreas Laner
00036836	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036837	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected SCN1A-mutation	1	1	Andreas Laner
00036838	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036839	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036840	-	-	-	-	-	Germany	-	-	-	-	-	?	Dravet syndrome	1	1	Andreas Laner
00036841	-	-	-	-	-	Germany	-	-	-	-	-	?	GEFS+	1	1	Andreas Laner
00036842	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome	1	1	Andreas Laner
00036843	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036844	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected focal epilepsy with abnormal Abcences and grand mal febrile convulsions from 3 to 7	1	1	Andreas Laner
00036845	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036846	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected SCN1A-associated disease	1	1	Andreas Laner
00036847	-	-	-	-	-	Germany	-	-	-	-	-	?	5x febrile seizures	1	1	Andreas Laner
00036848	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036849	-	-	-	-	-	Germany	-	-	-	-	-	?	therapie-resistent focal epilepsy with generalized and focal seizures; suspected Dravet syndrome; other patient: suspected familiar hemiplegtic migraine	1	1	Andreas Laner
00036850	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected SCN1A-mutation, epilepsy GEFS	1	1	Andreas Laner
00036851	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036852	-	-	-	-	-	Germany	-	-	-	-	-	?	Dravet syndrome, febrile convulsions, epilepsy	1	1	Andreas Laner
00036853	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome	1	1	Andreas Laner
00036854	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome, myoklonic epilepsy	1	1	Andreas Laner
00036855	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036856	-	-	-	-	-	Germany	-	-	-	-	-	?	congenital hyperinsulinism, Nesidioblastose, several severe incidents of hypoglycaemia as a newborn, MRT: watershed lesions bi po, sympt. focal epilepsy, obesity	1	1	Andreas Laner
00036857	-	-	-	-	-	Germany	-	-	-	-	-	?	seizures; MGZ #77517: suspected GEFS+, familiar febrile convulsions; MGZ #77675: suspected Dravet syndrome, epilepsy with hemi-grand mal and generalized seizures; MGZ #76024: familiar hemiplegtic migraine; MGZ #78100: suspected GEFS+,suspected Dravet syndrome, epilepsy with focal and generalized seizures, milde brain atrophy; family history positive:twin sister first seizure after vaccination, 4 seizures without fever,mother as child seizures; MGZ #78251: GEFS+, febrile convulsions	1	1	Andreas Laner
00036858	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036859	-	-	-	-	-	Germany	-	-	-	-	-	?	relapsing febrile convulsions, developmental delay, language delay	1	1	Andreas Laner
00036860	-	-	-	-	-	Germany	-	-	-	-	-	?	Dravet, myoclonic epilepsy of infancy	1	1	Andreas Laner
00036861	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036862	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036863	-	-	-	-	-	Germany	-	-	-	-	-	?	status post febrile convulsions, epilepsy with generalized tonic-clonic seizures, suspected Dravet syndrome	1	1	Andreas Laner
00036864	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036865	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036866	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome; brother has febrile convulsions	1	1	Andreas Laner
00036867	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036868	-	-	-	-	-	Germany	-	-	-	-	-	?	epilepsy	1	1	Andreas Laner
00036869	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036870	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036871	-	-	-	-	-	Germany	-	-	-	-	-	?	therapy- refraktory epilepsy, grand mal and myoclonia, mental retardation, cleft lip, Hypomimie, Hypophonie, febrile convulsions	1	1	Andreas Laner
00036872	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036873	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036874	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036875	-	-	-	-	-	Germany	-	-	-	-	-	?	epilepsy	1	1	Andreas Laner
00036876	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036877	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Dravet syndrome,not-classified epilepsy since the third month of life, fever	1	1	Andreas Laner
00036878	-	-	-	-	-	Germany	-	-	-	-	-	?	epilepsy; other patient: early child myoklonic epilepsy	1	1	Andreas Laner
00036879	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036880	-	-	-	-	-	Germany	-	-	-	-	-	?	developmental delay	1	1	Andreas Laner

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Global Variome shared LOVD

SCN1A (sodium channel, voltage-gated, type I, alpha...)