All individuals with variants in gene SLC2A1

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.

72 entries on 1 page. Showing entries 1 - 72.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00037103	-	-	-	-	-	Germany	-	-	-	-	-	?	juvenil epilepsy with Absences, mental retardation, nystagmus	1	1	Andreas Laner
00037104	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037105	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GLUT1-deficiency, generalized epilepsy, retardation, Gangataxie, dysarthria, ocular apraxia	1	1	Andreas Laner
00037106	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037107	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GLUT1-deficiency, epilepsy, ataxia, abnormal development	1	1	Andreas Laner
00037108	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037109	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037110	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037111	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037112	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037113	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037114	-	-	-	-	-	Germany	-	-	-	-	-	?	epilepsy, West-syndrome, global developmental retardation	1	1	Andreas Laner
00037115	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037116	-	-	-	-	-	Germany	-	-	-	-	-	GLUT1DS1	GLUT1-deficiency	1	1	Andreas Laner
00037117	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037118	-	-	-	-	-	Germany	-	-	-	-	-	GLUT1DS1	GLUT1-deficiency	1	1	Andreas Laner
00037119	-	-	-	-	-	Germany	-	-	-	-	-	GLUT1DS1	GLUT1-deficiency: epilepsy (Absences, atonisch), ataxia, global developmental retardation, dystonia	1	1	Andreas Laner
00037120	-	-	-	-	-	Germany	-	-	-	-	-	?	juvenil epilepsy with Absences (atypical course)	1	1	Andreas Laner
00037121	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GLUT1-deficiency	1	1	Andreas Laner
00037122	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037123	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037124	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037125	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037126	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GLUT-1-Defekt, ataxia, cramps	1	1	Andreas Laner
00037127	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037128	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037129	-	-	-	-	-	Germany	-	-	-	-	-	GLUT1DS1	GLUT1-deficiency syndrome, difficult epilepsy, Borderline, low CSF glucose	1	1	Andreas Laner
00037130	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037131	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GLUT1-deficiency, cerebellar cramps	1	1	Andreas Laner
00037132	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GLUT1-deficiency, CSWS-syndrome, psychomotor retardation, relapsing ataxia	1	1	Andreas Laner
00037133	-	-	-	-	-	Germany	-	-	-	-	-	?	developmental delay, epilepsy	1	1	Andreas Laner
00037134	-	-	-	-	-	Germany	-	-	-	-	-	?	ataxia, epilepsy	1	1	Andreas Laner
00037135	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037136	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00050614	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	microcephaly, seizures, curved phalanges of the 5th finger, abnormality of finger, capillary hemangiomas	1	1	Johan den Dunnen
00080889	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	GLUT1DS1	GLUT1 deficiency syndrome 1 (OMIM:606777)	1	1	Daniel Trujillano
00081421	-	-	-	F	-	Netherlands	white	-	-	-	-	GLUT1DS1	5m myoclonic seizures; severe intellectual disability (IQ ~50); “clumsy” in the mornings, with clear improvement after breakfast, but never noticed episodes that might fit with a diagnosis of paroxysmal dyskinesia	1	1	Erik-Jan Kamsteeg
00100280	-	-	-	-	-	Germany	-	-	-	-	-	GLUT1DS1	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00116819	S_130:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116885	S_273:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116951	S_427:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117042	S_606:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	1	1	Dheeraj Bobbili
00180175	29286531-Pat27	PubMed: Tumienė 2018	-	-	-	(Slovenia)	-	-	-	-	-	?	Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), microcephaly (HP:0000252), global developmental delay (HP:0001263), episodic (morning) ataxia (HP:0002131), resting tremor (HP:0002322), hypoglycemia (HP:0001943).	1	1	Johan den Dunnen
00206816	-	-	-	F	-	-	-	-	-	-	-	?	HP:0200134 (Epileptic encephalopathy)	1	1	IMGAG
00234402	-	-	-	M	-	-	-	-	-	-	-	?	Paroxysmal dyskinesia (HP:0007166); Absence seizure (HP:0002121); Tremor (HP:0001337); Intellectual disability, borderline (HP:0006889)	1	1	IMGAG
00275581	-	-	-	M	-	-	-	-	-	-	-	?	Delayed speech and language development (HP:0000750); Ataxia (HP:0001251); Generalized hypotonia (HP:0001290)	1	1	Andreas Laner
00289842	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289843	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289844	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295755	-	-	-	M	-	-	-	-	-	-	-	?	Gait ataxia (HP:0002066); Intellectual disability (HP:0001249); Strabismus (HP:0000486); Oculomotor apraxia (HP:0000657); Hypermetropia (HP:0000540); Dysarthria (HP:0001260)	1	1	Andreas Laner
00296768	APN-38	PubMed: Redin 2014	analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	France	-	-	-	-	-	ID	severe intellectual disability	1	1	Johan den Dunnen
00296786	APN-131	PubMed: Redin 2014	analysis 106 patients; 2-generation family, affected male twins, unaffected heterozygous carrier parents	M	-	France	-	-	-	-	-	ID	see paper; ..., severe intellectual disability; evocative symptoms of both SLC2A1 and ANKRD11 variants (major hypotonia, skeletal abnormalities	1	2	Johan den Dunnen
00299446	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of movement (HP:0100022); Seizures (HP:0001250)	1	1	Andreas Laner
00306011	Pat42	PubMed: Johannesen 2020	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Denmark	-	-	-	-	-	epilepsy	-	1	1	Johan den Dunnen
00307814	UK10K_FINDWGA5411433	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307815	UK10K_FINDWGA5411433	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307816	UK10K_FINDWGA5410904	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00374499	S-5628	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Seizures, spastic quadriplegia, walking and speech difficulties, vacant and unresponsive stare, episodes of excessive sleep and delayed developmental milestones.	1	1	Johan den Dunnen
00374500	S-1891	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Multiple types of epilepsy, microcephaly, delayed motor and cognitive development, axial hypotonia ad episodes of nystagmus. MRI showed hypomyelination	1	1	Johan den Dunnen
00374501	S-3231	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Microcephaly, global developmental delay, episodic ataxia, ID, brisk tendon reflexes and coarse facial features.	1	1	Johan den Dunnen
00374502	S-221	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Encephalopathy, seizures, global developmental delay, microcephaly, cognitive defect, delayed speech, spasticity and hypoglycorrhachia	1	1	Johan den Dunnen
00374503	S-4302	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Episodic ataxia, absence epilepsy, reduced concentration, restlessness and a decline in academic performance	1	1	Johan den Dunnen
00374857	S-4971	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374858	S-993	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374859	R-1079	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00403042	-	-	-	-	-	-	-	-	-	-	-	ataxia	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00415082	202584	-	-	M	-	Germany	-	-	-	-	-	GLUT1DS1	Episodic ataxia	1	1	Andreas Laner
00438296	Pat14	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0012704 widened subarachnoid space	1	1	Johan den Dunnen
00438319	Pat37	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0001281 tetany; HP:0025119 violet lip discoloration; HP:0025401 staring gaze; HP:0007370 aplasia/hypoplasia of the corpus callosum; HP:0030047 abnormality of lateral ventricle; HP:0001302 pachygyria	1	1	Johan den Dunnen
00438361	Pat79	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0001249 intellectual disability	1	1	Johan den Dunnen
00440363	PED1597.2	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00448518	284170	family, affected father/daughter	-	F	no	Germany	-	-	-	-	-	GLUT1DS2;DYT18	Freezing of gait, Episodic ataxia, Exercise-induced muscle fatigue, Intellectual disability, mild, Aortic valve stenosis, EEG abnormality, Migraine with aura; Father: gait ataxia, mental retardation	1	2	Andreas Laner

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Global Variome shared LOVD

SLC2A1 (solute carrier family 2 (facilitated gluco...))